Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome
McCarthy, John M, McCann-Crosby, Bonnie M, Rech, Megan E, Yin, Jiani, Chen, Chun-An, Ali, May A, Nguyen, HaiThuy N, Miller, Jennifer L, Schaaf, Christian P
Published in Journal of medical genetics (01.05.2018)
Published in Journal of medical genetics (01.05.2018)
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Do weighted blankets improve sleep among children with a history of maltreatment? A randomized controlled crossover trial
Cifre, Anthony B, Vieira, Alyssa, Baker, Carter, Myers, Annika, Rech, Megan E, Kim, Jinu, Zhang, Yuexin, Alfano, Candice A
Published in Journal of clinical sleep medicine (01.09.2024)
Published in Journal of clinical sleep medicine (01.09.2024)
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Journal Article
Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome
Powell, Weston T., Schaaf, Christian P., Rech, Megan E., Wrede, Joanna
Published in Pediatric pulmonology (01.11.2020)
Published in Pediatric pulmonology (01.11.2020)
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Journal Article
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity
Chen, Chun-An, Wang, Wei, Pedersen, Steen E, Raman, Ayush, Seymour, Michelle L, Ruiz, Fernanda R, Xia, Anping, van der Heijden, Meike E, Wang, Li, Yin, Jiani, Lopez, Joanna, Rech, Megan E, Lewis, Richard A, Wu, Samuel M, Liu, Zhandong, Pereira, Fred A, Pautler, Robia G, Zoghbi, Huda Y, Schaaf, Christian P
Published in Human molecular genetics (27.03.2020)
Published in Human molecular genetics (27.03.2020)
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Journal Article
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations
Rech, Megan E., McCarthy, John M., Chen, Chun‐An, Edmond, Jane C., Shah, Veeral S., Bosch, Daniëlle G. M., Berry, Gerard T., Williams, Linford, Madan‐Khetarpal, Suneeta, Niyazov, Dmitriy, Shaw‐Smith, Charles, Kovar, Erin M., Lupo, Philip J., Schaaf, Christian P.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Fountain, Michael D, Oleson, David S, Rech, Megan E, Segebrecht, Lara, Hunter, Jill V, McCarthy, John M, Lupo, Philip J, Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A, Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S, Pedersen, Robert C, Morgan, Thomas M, Pfotenhauer, Jean P, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L, Patel, Ankita, Krantz, Ian D, Raible, Sarah E, Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M, Person, Richard E, Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D, van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L, Taft, Ryan J, Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F, Horn, Denise, Spillmann, Rebecca C, Peña, Loren, Wierzba, Jolanta, Strom, Tim M, Parenti, Ilaria, Kaiser, Frank J, Ehmke, Nadja, Schaaf, Christian P
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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